Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG5
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S4_revised__2.8.21.xlsx › Sheet1
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
Tang YP et al.
Bmc Gastroenterology, 2021
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L et al.
Brain : a Journal of Neurology, 2017
SPG5 and multiple sclerosis: clinical and genetic overlap?
Criscuolo C et al.
Acta Neurologica Scandinavica, 2016
Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.
Mignarri A et al.
Journal of Neurology, 2014
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Arnoldi A et al.
Clinical Genetics, 2012
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA et al.
Clinical Genetics, 2011
Electrophysiological characterisation in hereditary spastic paraplegia type 5.
Manganelli F et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2011
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
Criscuolo C et al.
Journal of Neurology, 2009
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